Cited by 200Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

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Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Forest, M. G.·2004·Human Reproduction Update

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Abstract

Congenital adrenal hyperplasias (CAH) are inherited defects of cortisol biosynthesis. More than 90% of CAH are caused by 21-hydroxylase deficiency (21-OHD), found in 1:10 000 to 1:15 000 live births. Females with 'classical' 21-OHD, being exposed to excess androgens prenatally, are born with virilized external genitalia. Potentially lethal adrenal insufficiency is characteristic of two-thirds to three-quarters of patients with the classical salt wasting (SW) form of 21-OHD. Non-SW 21-OHD may be diagnosed on genital ambiguity in affected females, and/or later on the occurrence of androgen excess in both sexes. Non-classical 21-OHD, detected in > or =1:100 of certain populations, may present as precocious pubarche in children or polycystic ovarian syndrome in young women. 21-OHD is caused by mutations in the CYP21 gene encoding the steroid 21-hydroxylase enzyme. More than 90% of these mutations result from intergenic recombination between CYP21 and the closely linked CYP21P pseudogene. The degree to which each mutation compromises enzymatic activity is strongly correlated with the clinical severity of the disorder. This close association between genotype and phenotype makes it possible to predict clinical outcome in affected subjects. The risk of SW and prenatal virilization can be estimated, and overtreatment can be avoided in mildly affected cases. Glucocorticoid and mineralocorticoid replacement therapies are the mainstays of treatment, but additional therapies are being developed. A first trimester prenatal diagnosis should be proposed in families in whom molecular studies have been performed previously. The state of heterozygotism can be predicted by hormonal testing and confirmed by molecular studies. Prenatal diagnosis by direct mutation detection in previously genotyped families permits prenatal treatment of affected females in order to avoid or minimize genital virilization. Neonatal screening by hormonal methods identifies affected children before SW crises develop, reducing mortality in this disorder.

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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency*
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[49]49. Guidollet-Tardy V (2002) Le de ´ficit en 21-hydroxylase Mise au point de l'exploration mole ´culaire de 1538 patients et 188 he ´te ´rozygotes; Corre ´- lations ge ´notype-phe ´notype. PhD Thesis, University Lyon I, 256pp.

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Nowotny, H., Neumann, U., Tardy-Guidollet, V., Ahmed, S. F., Baronio, F., Battelino, T., Bertherat, J. Y., Blankenstein, O., Bonomi, M., Bouvattier, C. M., et al. (2022) · European Journal of Endocrinology · doi:10.1530/eje-21-0554 · Cited by 23
Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany
on behalf of the German Society of Pediatric Endocrinology and Diabetology, Dörr, H. G., Wollmann, H. A., Hauffa, B. P., & Woelfle, J. (2018) · BMC Endocrine Disorders · doi:10.1186/s12902-018-0263-1 · Cited by 22
Premature pubarche in Mediterranean girls: high prevalence of heterozygous CYP21 mutation carriers
Paris, F., Tardy, V., Chalançon, A., Picot, M., Morel, Y., & Sultan, C. (2010) · Gynecological Endocrinology · doi:10.3109/09513590903511505 · Cited by 20
“Early detection of a severe CYP21A2 gene mutation, either isolated or associated with NCAH, may impact the management of future pregnancies in these patients [20,21].”
BackgroundMethod
Zona fasciculata 21-hydroxysteroids and precursor-to-product ratios in 21-hydroxylase deficiency: further characterization of classic and non-classic patients and heterozygote carriers.
Costa‐Barbosa, F. A., Carvalho, V. M., Nakamura, O. H., Bachega, T. A. S. S., Vieira, J. G. H., & Kater, C. E. (2011) · PubMed · doi:10.3275/7273 · Cited by 20
Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: characterization of three novel polymorphisms
Ben Charfeddine, I., Riepe, F. G., Clauser, E., Ayedi, A., Makni, S., Sfar, M. T., Sboui, H., Kahloul, N., Ben Hamouda, H., Chouchane, S., et al. (2012) · Gene · doi:10.1016/j.gene.2012.07.027 · Cited by 19
“To analyze the genotype–phenotype correlation, CYP21A2 gene mutations were categorized into four groups based on in vitro established residual enzyme activity as described previously (Forest, 2004; Skordis et al.; Stikkelbroeck et al., 2003) and on the assumption that in compound heterozygous, the mildest mutation det…”
Method
Congenital Adrenal Hyperplasia
Vos, A. A., & Bruinse, H. W. (2010) · Obstetrical & Gynecological Survey · doi:10.1097/ogx.0b013e3181d61046 · Cited by 18
“With the introduction of antenatal treatment with dexamethasone in 1978 (1), antenatal virilization of affected girls could be prevented.”
Overview of Genetic Defects in Endocrinopathies in the Island of Cyprus; Evidence of a Founder Effect
Shammas, C., Neocleous, V., Toumba, M., Costi, C., Phedonos, A., Efstathiou, E., Kyriakou, A., Phylactou, L. A., & Skordis, N. (2012) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2011.0381 · Cited by 18
“…estimated incidence of 1:10,000 to 1:15,000 for the severe classic form and 1:500 to 1:100 live births for the NC-CAH (Carroll et al. , 1985; Urabe et al. , 1990; Morel and Miller, 1991; Pang, 1997; Speiser and White, 2003; Forest, 2004; van der Kamp and Wit, 2004; Merke and Bornstein, 2005).”
Trophoblast Retrieval and Isolation From the Cervix for Noninvasive, First Trimester, Fetal Gender Determination in a Carrier of Congenital Adrenal Hyperplasia
Bolnick, A. D., Fritz, R., Jain, C. V., Kadam, L., Bolnick, J. M., Kilburn, B. A., Singh, M., Diamond, M. P., Drewlo, S., & Armant, D. R. (2016) · Reproductive Sciences · doi:10.1177/1933719116632922 · Cited by 18
“Treatment to prevent masculinization of external genitalia should preferably be introduced by 5 to 6 weeks of gestation, unless a karyotype of 46, XY is established.(11) Molecular genetic analysis of fetal DNA acquired by amniocentesis or chorionic villus sampling (CVS) is used to diagnose CAH in utero.”
Background
Sperm retrieval and concomitant tumor resection in azoospermic men with congenital adrenal hyperplasia and bilateral testicular adrenal rest tumors: a case report
Kavoussi, P. K., Summers-Colquitt, R. B., Odenwald, K. C., Kressin, M., Kavoussi, K. M., Pool, T. B., & Kavoussi, S. K. (2016) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-016-0665-9 · Cited by 17
“In greater than 90% of CAH cases, the cause is CYP21 (21-hydroxylase) deficiency [5, 10, 11].”
Background
Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia
Prado, M. J., de Castro, S. M., Kopacek, C., de Mello, M. P., Rispoli, T., Grandi, T., da Silva, C. M. D., & Rossetti, M. L. R. (2017) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-017-0296-6 · Cited by 17
Mechanism of intermolecular interactions of microsomal cytochrome P450s CYP17 and CYP21 involved in steroid hormone biosynthesis
Sushko, T. A., Gilep, A. A., & Usanov, S. A. (2012) · Biochemistry (Moscow) · doi:10.1134/s0006297912060041 · Cited by 17
Surgical Treatment after Failed Primary Correction of Urogenital Sinus in Female Patients with Virilizing Congenital Adrenal Hyperplasia: Are Good Results Possible?
Sircili, M. H. P., Bachega, T. A. S. S., Madureira, G., Gomes, L. G., Mendonca, B. B., & Dénes, F. T. (2016) · Frontiers in Pediatrics · doi:10.3389/fped.2016.00118 · Cited by 17
“Congenital adrenal hyperplasia is a lifelong disorder, which poses management problems that are age and sex specific (9, 10).”
Background
Molecular testing in congenital adrenal hyperplasia due to 21α‐hydroxylase deficiency in the era of newborn screening
Sarafoglou, K., Lorentz, C. P., Otten, N., Oetting, W. S., & Grebe, S. K. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01694.x · Cited by 16
“6% of our classical 21α-OHase deficiency patients, below the generally accepted figure that >75% of classical CAH is comprised of the SW form (25, 26).”
Background
Sonography and magnetic resonance imaging characteristics of testicular adrenal rest tumors
Yılmaz, R., Şahin, D., Aghayev, A., Erol, O. B., Poyrazoğlu, Ş., Saka, N., & Yekeler, E. (2018) · Polish Journal of Radiology · doi:10.12659/pjr.901986 · Cited by 35
Neonatal screening for congenital adrenal hyperplasia: transitory elevation of 17-hydroxyprogesterone
Fernández, B. H., Fernández, M. E., Íñiguez, E. D., Zubicaray, B. E., Martín, M. B. R., Arnao, M. D. R., & Sánchez, A. R. (2011) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2011.007 · Cited by 13
Non-classical 21-hydroxylase deficiency: prevalence in males with unexplained abnormal sperm analysis
Pinkas, H., Fuchs, S., Aurbach-Klipper, Y., Zvulunov, A., Raanani, H., Sheffer-Mimouni, G., Fisch, B., & Weintrob, N. (2009) · Fertility and Sterility · doi:10.1016/j.fertnstert.2008.12.037 · Cited by 13
Prenatal Treatment of Congenital Adrenal Hyperplasia
Hughes, I. A. (2006) · Treatments in Endocrinology · doi:10.2165/00024677-200605010-00001 · Cited by 13
Using SILAC proteomics to investigate the effect of the mycotoxin, alternariol, in the human H295R steroidogenesis model
Kalayou, S., Hamre, A. G., Ndossi, D., Connolly, L., Sørlie, M., Ropstad, E., & Verhaegen, S. (2014) · Cell Biology and Toxicology · doi:10.1007/s10565-014-9290-5 · Cited by 12
Prevalence of non classical congenital adrenal hyperplasia due to 21‐hydroxylase deficiency in Greek women with acne: a hospital‐based cross‐sectional study
Trakakis, E., Papadavid, E., Dalamaga, Μ., Koumaki, D., Stavrianeas, N. G., Rigopoulos, D., Creatsas, G. C., & Kassanos, D. P. (2012) · Journal of the European Academy of Dermatology and Venereology · doi:10.1111/j.1468-3083.2012.04613.x · Cited by 12
Comparison of different glucocorticoid regimens in the management of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Ajish, T., Pavithran, P. V., Nisha, B., & Kumar, H. (2014) · Indian Journal of Endocrinology and Metabolism · doi:10.4103/2230-8210.141358 · Cited by 12
“A variety of glucocorticoids (hydrocortisone, prednisolone, and dexamethasone) and dosage schedules are used for this purpose in adults.[5,6] In children the”
Background
Leukoencephalopathy in 21-β hydroxylase deficiency: Report of a family
Gaudiano, C., Malandrini, A., Pollazzon, M., Murru, S., Mari, F., Renieri, A., & Federico, A. (2009) · Brain and Development · doi:10.1016/j.braindev.2009.04.004 · Cited by 12
“Congenital adrenal hyperplasia (CAH) is caused by a total or partial deficiency of 21-hydroxylase (21-OH), due to mutations in the CYP21 gene, located on chromosome 6p [1,2].”
Background
Imaging in fetal genital anomalies
Soto, Á. L., González, M. B., Reyes, M. U., Jiménez, L. C. M., Sánchez, A. B., Morcillo, J. G., Martínez, M. V., González, J. L. M., Rivero, I. M., & Izquierdo, O. G. (2023) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/j.ejogrb.2023.01.035 · Cited by 11
Serum 17α-hydroxyprogesterone concentrations during the reproductive cycle in healthy dogs and dogs with hyperadrenocorticism
Brömel, C., Feldman, E. C., Davidson, A. P., Nelson, R. W., Kass, P. H., Esteller‐Vico, A., Labelle, P., Munro, C. J., & Conley, A. J. (2010) · Journal of the American Veterinary Medical Association · doi:10.2460/javma.236.11.1208 · Cited by 10
Evaluation of the Pediatric Urology Patient
Canning, D. A., & Lambert, S. M. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4160-6911-9.00115-8 · Cited by 9
Clinical Patterns and Linear Growth in Children with Congenital Adrenal Hyperplasia, an 11-Year Experience
Shaikh, A. M. A., Alghanmi., Y., Awidah, S., Bahha, A., Ahmed, M., & Soliman, A. T. (2019) · Indian Journal of Endocrinology and Metabolism · doi:10.4103/ijem.ijem_99_19 · Cited by 9
Normalization of height and excess body fat in children with salt-wasting 21-hydroxylase deficiency
Mendes-dos-Santos, C. T., Guerra‐Júnior, G., de Mello, M. P., Paulino, M. F. V. M., & Morcillo, A. M. (2011) · Jornal de Pediatria · doi:10.2223/jped.2095 · Cited by 9
Sex-Specific Effects of Prenatal Glucocorticoids on Placental Development
Dickinson, H., Bree, A., David, W. L., & Moritz, K. M. (2012) · InTech eBooks · doi:10.5772/50200 · Cited by 9
“Women whose babies are at risk of congenital adrenal hyperplasia are administered antenatal glucocorticoid treatment to return fetal adrenal hormone levels to normal and thus virilisation (the abnormal development of male sexual characteristics in a female) and fertility problems are prevented [32].”
Background
Effects of Maternal Dexamethasone Treatment Early in Pregnancy on Glucocorticoid Receptors in the Ovine Placenta
Shang, H., Meng, W., Sloboda, D. M., Li, S., Ehrlich, L., Plagemann, A., Dudenhausen, J. W., Henrich, W., Newnham, J. P., Challis, J. R. G., et al. (2014) · Reproductive Sciences · doi:10.1177/1933719114553452 · Cited by 9
“In early pregnancy, antenatal GCs are used in suspected cases of congenital adrenal hyperplasia (CAH) to prevent female fetuses from virilization.(4,5) Although the long-term effects of prenatal GC exposure late in pregnancy are well documented in experimental studies, little is known about the mechanisms that regulat…”
Background
The eye and the skin in endocrine metabolic diseases
Urrets‐Zavalía, J. A., Espósito, E., Garay, I. S., Monti, R., Ruiz-Lascano, A., Correa, L. J., Serra, H. M., & Grzybowski, A. E. (2015) · Clinics in Dermatology · doi:10.1016/j.clindermatol.2015.12.001 · Cited by 9
Congenital adrenal hyperplasia clinical characteristics and genotype in newborn, childhood and adolescence.
Pasqualini, T., Alonso, G., Tomasini, R., Galich, A. M., Buzzalino, N. D., Fernández, C. S., Minutolo, C., Alba, L. G., & Daín, L. (2007) · PubMed · Cited by 9
Effects of tail docking and castration on stress responses in lambs and the influence of prenatal glucocorticoid treatment
Li, S., Nitsos, I., Polglase, G. R., Newnham, J. P., Challis, J. R. G., & Moss, T. J. M. (2012) · Reproduction Fertility and Development · doi:10.1071/rd12229 · Cited by 8
“In humans, synthetic glucocorticoids are used in early pregnancy to prevent virilisation of female fetuses at risk of congenital adrenal hyperplasia, as well as in late pregnancy to enhance fetal lung maturation before preterm birth (Liggins and Howie 1972; Jobe et al. 1998; Moss et al. 2001, 2003; Ritzén 2001; Forest…”
Background
Déficits en 21-hydroxylase et infertilité féminine : de la physiopathologie à la prise en charge thérapeutique
Robin, G., Decanter, C., Baffet, H., Catteau-Jonard, S., & Dewailly, D. (2014) · Gynécologie Obstétrique & Fertilité · doi:10.1016/j.gyobfe.2014.04.005 · Cited by 8
“indiquait la réalisation d’un séquençage du gène CYP21A2, car ces patients avaient une forte probabilité d’être hétérozygotes [5].”
Background
Measuring steroids from dried blood spots using tandem mass spectrometry to diagnose congenital adrenal hyperplasia
Qasrawi, D. O., Boyd, J. M., & Sadrzadeh, S. M. H. (2021) · Clinica Chimica Acta · doi:10.1016/j.cca.2021.06.005 · Cited by 11
Leydig Cell Tumor and Malignant Lymphoma in a Patient with Nonclassical 21-Hydroxylase Deficiency
Inaba, H., Suzuki, S., Shigematsu, S., Shinomiya, K., Ohfusa, H., Shimojo, Y., Uehara, T., & Hashizume, K. (2009) · Internal Medicine · doi:10.2169/internalmedicine.48.1733 · Cited by 8
“The present case may be categorized as the non-classical type, considering normal growth history and family history with the increases of androgen, without lack of mineralocorticoid (7).”
Background
Sexualmedizinische Aspekte bei Intersexsyndromen
Bosinski, H. A. G. (2006) · Der Urologe · doi:10.1007/s00120-006-1097-4 · Cited by 7
“Bei Einbeziehung der Mineralokortikoidsynthese kommt es darüber hinaus zur Ausbildung eines lebensbedrohlichen Salzverlustsyndroms [37, 108].”
Background
21-Hydroxylase Deficiency Associated with Male Infertility: Report of 2 Cases with Gene Analyses
Sumida, C., Kondoh, N., Kurajoh, M., Koyama, H., Tsutsumi, Z., Moriwaki, Y., & Yamamoto, T. (2011) · Internal Medicine · doi:10.2169/internalmedicine.50.5083 · Cited by 6
“CAH is estimated to occur in approximately 1 in 10,000 to 15,000 births worldwide (5), among which 21hydroxylase deficiency comprises more than 90%.”
Comprehensive Genetic Testing of CYP21A2: A Retrospective Analysis in Patients with Suspected Congenital Adrenal Hyperplasia
Nan, M. N., Roig, R., Martínez, S., Rives, J., Urgell, E., Espinós, J. J., Tirado-Capistros, M., Carreras, G., Aulinas, A., Webb, S. M., et al. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10061183 · Cited by 7
Nonclassical congenital adrenal hyperplasia: Metabolic and hormonal profile
Piróg, M. M., Pulka, A., Zabiegło, E., & Jach, R. (2023) · Clinical Endocrinology · doi:10.1111/cen.14988 · Cited by 8
“21,22 Hyperan-drogenemia reflected by an increased testosterone together with DHEA ‐”
Background
Testikuläre adrenale Resttumoren (TART) bei erwachsenen Männern mit klassischem adrenogenitalen Syndrom (AGS)
Knape, P., Reisch, N., Dörr, H. G., Reincke, M., Lenk, S. V., & Quinkler, M. O. (2008) · Der Urologe · doi:10.1007/s00120-008-1857-4 · Cited by 6
Virilized External Genitalia in Young Girls: Clinical Characteristics and Management Challenges in a Low-Resource Setting
Ekenze, S. O., Adiri, C. O., Igwilo, I. O., & Onumaegbu, O. O. (2013) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2013.07.004 · Cited by 6
High frequency of splice site mutation in 21-hydroxylase deficiency children
Sharaf, S. A. E.-A., Hafez, M. M., El-Abd, D. M., Ismail, A. A., Thabet, G. M., & Elsharkawy, M. (2014) · Journal of Endocrinological Investigation · doi:10.1007/s40618-014-0207-1 · Cited by 6

Authors: Forest, M. G.
Affiliations: Inserm (FR)
Corresponding author: Forest, M. G.
Venue: Human Reproduction Update
Publisher: Oxford University Press (OUP)
Published: 2004-09-23
Volume: 10
Issue: 6
Pages: 469-485
ISSN: 1355-4786 (ISSN-L)
1460-2369
DOI: 10.1093/humupd/dmh047
OpenAlex: W2135400812
Semantic Scholar: 1bdf692960096ceca79298e51fbe52efbd96ea29
Cited by: 200
References: 150
Citations by year: 2026: 4 · 2025: 1 · 2024: 2 · 2023: 10 · 2022: 8 · 2021: 5 · 2020: 6 · 2019: 3 · 2018: 7 · 2017: 4 · 2016: 10 · 2015: 9 · 2014: 14 · 2013: 14 · 2012: 16
FWCI: 0.58
Type: journal article
Language: en
Open access: closed
Locations: Human Reproduction Update (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords: congenital adrenal hyperplasia, 21-hydroxylase deficiency, CYP21, intergenic recombination, genotype-phenotype correlation, salt wasting, adrenal insufficiency, precocious pubarche, polycystic ovary syndrome, glucocorticoid replacement therapy, mineralocorticoid replacement, prenatal diagnosis, newborn screening, overtreatment
MeSH terms: Adrenal Hyperplasia, Congenital, Body Height, Dose-Response Relationship, Drug, Female, Fertility, Genetic Counseling, Glucocorticoids, Heterozygote, Humans, Infant, Newborn, Mineralocorticoids, Mutation, Pregnancy, Prenatal Diagnosis, Steroid 21-Hydroxylase, Obstetric Surgical Procedures, Incidence, Neonatal Screening, Treatment Outcome

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Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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